Days Set Up
Monday - Thursday
Analytic Time

21 days

MiChart Code
Fragile X DNA Analysis (MMGL)
Soft Order Code
FRXFA

Test Updated:

Synonyms

FRXFAS
Fragile X Frag Analysis Shadow
FRXFA
Fragile X Mutation Detection by Fragment Analysis
FXPB
Fragile X Synd Car Det,Blood
FRAGILE X FRAG ANALYSIS
Fragile X Syndrome
x-linked mental retardation
Fragile X tremor ataxia syndrome
Fragile X associated premature ovarian insufficiency (FXPOI)
Autism / Intellectual Disability

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Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

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Order Kits and Supplies

MLabs provides all the supplies necessary for the collection of specimens.

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Test Overview

Test Methodology

This test utilizes a G-C rich PCR method with a FAM-labeled gene-specific primer designed to amplify the entire repeat region and a CGG repeat primer designed to anneal and amplify anywhere along the repeat region. Amplification is followed by analysis with capillary electrophoresis (CE). This test is run in conjunction with methylation PCR to determine methylation status of the gene promoter. Results may be confirmed by a second method such as Southern Blotting, if indicated.

Test Usage

Analysis of CGG repeats present in the FMR1 gene in a patient with clinical features consistent with Fragile X Syndrome or determination of the carrier status of a family member.

Reference Range

Normal alleles: 5-44 CGG repeats; Intermediate (gray zone) mutations: 45-54 CGG repeats; Premutations: 55-200 CGG repeats; Full Mutation: >200 CGG repeats. Interpretative report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Offsite

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Lavender Top Tube
Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood

Billing Information

CPT Code
81243
Pro Fee Code
 
LOINC
21759-6

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.